Linked Data
ClinVar Variation Id:
2343
dbSNP Id:
rs111033538
ExAC:
2:71351575 G / A
gnomAD v2:
2-71351575-G-A
gnomAD v3:
2-71124445-G-A
gnomAD v4:
2-71124445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124445G>A , CM000664.2:g.71124445G>A | GRCh38 |
| NC_000002.11:g.71351575G>A , CM000664.1:g.71351575G>A | GRCh37 |
| NC_000002.10:g.71205083G>A | NCBI36 |
| NG_008977.1:g.10820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.139C>T MANE Select | ENSP00000244217.5:p.Arg47Ter | |
| ENST00000244217.5:c.139C>T | ENSP00000244217.5:p.Arg47Ter | |
| ENST00000413592.5:c.7C>T | ENSP00000391140.1:p.Arg3Ter | |
| ENST00000486135.1:c.-147C>T | ENSP00000441569.1:n.-147C>T | |
| ENST00000494660.6:c.-147C>T | ENSP00000437361.1:n.-147C>T | |
| NM_032601.3:c.139C>T | NP_115990.3:p.Arg47Ter | |
| XM_005264613.2:c.139C>T | XP_005264670.1:p.Arg47Ter | |
| XR_939729.1:n.208C>T | ||
| XR_939729.2:n.208C>T | ||
| NM_032601.4:c.139C>T MANE Select | NP_115990.3:p.Arg47Ter |